{"id":384,"date":"2018-06-22T21:22:17","date_gmt":"2018-06-22T21:22:17","guid":{"rendered":"http:\/\/molecularmitomd.com\/?page_id=384"},"modified":"2024-06-08T16:00:01","modified_gmt":"2024-06-08T16:00:01","slug":"the-comprehensive-service-option","status":"publish","type":"page","link":"http:\/\/molecularmitomd.com\/?page_id=384","title":{"rendered":"The Comprehensive Service Option"},"content":{"rendered":"<p>[vc_row][vc_column][vc_column_text]If your physician orders this highest level of our Service, an extensive re-analysis of the raw<br \/>\nsequence data will be performed and discussed. The purpose of the Comprehensive Service is to<br \/>\nidentify sequence variants that are NOT on the official report by the laboratory, but in which Dr.<br \/>\nBoles believes might have implications to you\/your child\u2019s health and\/or medical care.<\/p>\n<p>&nbsp;<\/p>\n<p>[\/vc_column_text][\/vc_column][\/vc_row][vc_row full_width=&#8221;0&#8243; full_height=&#8221;0&#8243; elevate=&#8221;elevate&#8221; particles=&#8221;0&#8243;][vc_column][vc_tta_accordion color=&#8221;sky&#8221; active_section=&#8221;30&#8243; collapsible_all=&#8221;true&#8221;][vc_tta_section title=&#8221;What will happen?&#8221; tab_id=&#8221;1529701529203-76477939-4280&#8243;][vc_column_text]<\/p>\n<ol>\n<li>The genetic testing laboratory will be asked to forward their raw sequence data in an<br \/>\nelectronic format. Each testing laboratory has a different procedure:<\/p>\n<ul>\n<li>You may need to complete and\/or sign a request form. If so, this form (or the<br \/>\nhyperlink to the form on the laboratory\u2019s website) will be provided to you.<\/li>\n<li>For some laboratories, you may be required to pay a small fee to the testing<br \/>\nlaboratory to cover their costs (e.g. for the flash drive).<\/li>\n<li>The electronic sequence may be sent electronically (Internet) or by mail (flash<br \/>\ndrive) to your physician or directly to Dr. Boles. If sent to your physician, his\/her<br \/>\noffice will forward the sequence.<\/li>\n<\/ul>\n<\/li>\n<li>Dr. Boles will analyze the sequences, with the primary aim of identifying variants that<br \/>\nmight be treatable.<\/li>\n<li>Discussion of findings:\n<ul>\n<li>For Dr. Boles\u2019 private patients, including those seen in any of the Rossignol<br \/>\nMedical Centers, Dr. Boles will discuss the results with you during a follow-up<br \/>\nvia telemedicine.<\/li>\n<li>For the Peer-to-Peer service, Dr. Boles will discuss the results with your physician<br \/>\nover a telehealth call.<\/p>\n<ul>\n<li>You may listen in to this call and ask questions if you are physically<br \/>\npresent in a state that Dr. Boles is licensed to practice, currently CA, AZ, FL,<br \/>\nNJ, and PA.<\/li>\n<li>Later, your physician will discuss with you any options that he\/she<br \/>\nbelieves are reasonable in you\/your child based on an assessment of risks<br \/>\nand benefits.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n<p>[\/vc_column_text][\/vc_tta_section][vc_tta_section title=&#8221;Why you should consider this service?&#8221; tab_id=&#8221;1529702125168-c8461ca0-9981&#8243;][vc_column_text]Clinical genetics laboratories and the official reports they provide are limited to the standards set<br \/>\nby the American College of Medical Genetics (ACMG). These standards are excellent for<br \/>\ndetermining which variants are the likely cause of disease in many settings. However, they suffer<br \/>\nfrom the following limitations:<\/p>\n<ol>\n<li>Most laboratories do NOT report findings that MIGHT be disease related, even if there is<br \/>\na possible therapy.<\/li>\n<li>ACMG standard are designed for monogenic disease, which is disease caused by a<br \/>\nvariant in one gene. Most human disease is polygenic, which means that disease is<br \/>\ninfluenced by risk factors consisting of variants in more than one gene.<\/p>\n<ul>\n<li>In particular, functional (e.g. pain, fatigue, GI dysmotility, dysautonomia,<br \/>\ndepression) and neuro-developmental (e.g. autism, ADHD) disorders are<br \/>\ngenerally thought to be polygenic.<\/li>\n<\/ul>\n<\/li>\n<li>Most geneticists and genetic counselors that interpret the sequence data for laboratories<br \/>\nare trained in a strict allopathic manner, with little to no training in functional medicine.<\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<p>For all of the above reasons, sequence variants related to disease are likely to be missed by the<br \/>\nlaboratory and NOT listed on the reports. A re-analysis of the raw sequence is needed in order to<br \/>\nidentify them, and this is what the Comprehensive level of the Service is designed to accomplish.[\/vc_column_text][\/vc_tta_section][vc_tta_section title=&#8221;What are you likely to find in the re-analysis?&#8221; tab_id=&#8221;1529702225082-d08ccbcc-da8a&#8221;][vc_column_text]Some genetics testing laboratories, but not all, will list variants that are of unclear connection<br \/>\nwith disease if they believe that they may be disease related. These variants are termed as<br \/>\nVariants of Uncertain Significance (VUS). On the extensive sequence re-analysis as part of the<br \/>\nComprehensive Service, many additional VUSs will be identified that may or may not be disease<br \/>\nrelated.<br \/>\nIn the Comprehensive Service, each VUS will be considered by Dr. Boles (including discussion<br \/>\nwith your physician in the Peer-to-Peer setting) to determine which ones appear to be a good<br \/>\n\u201cfit\u201d for your\/your child\u2019s disease. Those variants that are potentially treatable or that inform on<br \/>\ntreatment choices are of particular interest and are discussed in detail. The goal is to identify<br \/>\ncandidate variants that suggest low-risk therapies which may be of help in treating the disease<br \/>\nand\/or improving symptoms.<br \/>\nEvery case is different, but our experience to date suggest that one to several such candidate<br \/>\nvariants are identified in the average patient. While treatment directed at these candidates is<br \/>\nsuccessful in many patients, in many other patients it is not. Sequence re-analysis is NOT a<br \/>\nguarantee of clinical success.[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_column_text]If your physician orders this highest level of our Service, an extensive re-analysis of the raw sequence data will be performed and discussed. The purpose of the Comprehensive Service is to identify sequence variants that are NOT on the official report by the laboratory, but in which Dr. Boles believes might have implications to you\/your [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-384","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/384","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=384"}],"version-history":[{"count":12,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/384\/revisions"}],"predecessor-version":[{"id":640,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/384\/revisions\/640"}],"wp:attachment":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=384"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}